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    Eya1 EYA transcriptional coactivator and phosphatase 1 [ Mus musculus (house mouse) ]

    Gene ID: 14048, updated on 3-Dec-2024

    Summary

    Official Symbol
    Eya1provided by MGI
    Official Full Name
    EYA transcriptional coactivator and phosphatase 1provided by MGI
    Primary source
    MGI:MGI:109344
    See related
    Ensembl:ENSMUSG00000025932 AllianceGenome:MGI:109344
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    bor
    Summary
    Enables RNA binding activity and protein tyrosine phosphatase activity. Involved in mesodermal cell fate specification; positive regulation of DNA-templated transcription; and protein sumoylation. Acts upstream of or within several processes, including embryonic organ morphogenesis; kidney development; and positive regulation of cell population proliferation. Located in cytoplasm and nucleus. Part of protein-DNA complex. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Used to study branchiootorenal syndrome. Human ortholog(s) of this gene implicated in branchiootorenal syndrome and branchiootorenal syndrome 1. Orthologous to human EYA1 (EYA transcriptional coactivator and phosphatase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 1.6), limb E14.5 (RPKM 1.5) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Eya1 in Genome Data Viewer
    Location:
    1 A3; 1 4.31 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (14239177..14381259, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (14168953..14311035, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_00289 Neighboring gene STARR-seq mESC enhancer starr_00290 Neighboring gene predicted gene, 19122 Neighboring gene STARR-seq mESC enhancer starr_00291 Neighboring gene STARR-seq mESC enhancer starr_00292 Neighboring gene predicted gene, 39596 Neighboring gene STARR-positive B cell enhancer mm9_chr1:14133997-14134297 Neighboring gene STARR-seq mESC enhancer starr_00298 Neighboring gene STARR-seq mESC enhancer starr_00300 Neighboring gene STARR-seq mESC enhancer starr_00301 Neighboring gene STARR-seq mESC enhancer starr_00302 Neighboring gene STARR-seq mESC enhancer starr_00303 Neighboring gene STARR-seq mESC enhancer starr_00305 Neighboring gene STARR-seq mESC enhancer starr_00306 Neighboring gene STARR-seq mESC enhancer starr_00307 Neighboring gene adaptor-related protein complex 2, beta 1 subunit pseudogene Neighboring gene STARR-seq mESC enhancer starr_00308 Neighboring gene STARR-seq mESC enhancer starr_00309 Neighboring gene STARR-seq mESC enhancer starr_00311 Neighboring gene predicted gene 9947 Neighboring gene musculin

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables MAP kinase serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin-dependent protein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS140 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXY142 phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H2AXY142 phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within anatomical structure development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within animal organ morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within aorta morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within branching involved in ureteric bud morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cochlea morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in double-strand break repair ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within embryonic skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inner ear morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mesodermal cell fate specification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within metanephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within middle ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron fate specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within otic vesicle development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within otic vesicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within outer ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pattern specification process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within pattern specification process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pharyngeal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA repair ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein sumoylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of neuron differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to ionizing radiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within semicircular canal morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within striated muscle tissue development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within ureteric bud development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    eyes absent homolog 1
    Names
    eyes absent 1 homolog
    NP_001239121.1
    NP_001297388.1
    NP_001389588.1
    NP_001389589.1
    NP_001389590.1
    NP_001389591.1
    NP_034294.2
    XP_006495509.1
    XP_006495515.1
    XP_011236648.1
    XP_017170837.1
    XP_017170870.1
    XP_017170903.1
    XP_030103330.1
    XP_036015537.1
    XP_036015555.1
    XP_036015568.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001252192.2NP_001239121.1  eyes absent homolog 1 isoform 2

      See identical proteins and their annotated locations for NP_001239121.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment and uses an alternate splice site in the 5' coding region and uses a different start codon compared to variant 4. The resulting isoform (2) contains a shorter and distinct N-terminus, compared to isoform 4.
      Source sequence(s)
      AC119875, AC156988
      Consensus CDS
      CCDS56621.1
      UniProtKB/TrEMBL
      F7B3B8, Q6NXW1, Q8C9D0
      Related
      ENSMUSP00000079493.9, ENSMUST00000080664.14
      Conserved Domains (2) summary
      TIGR01658
      Location:287558
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:289533
      Hydrolase; haloacid dehalogenase-like hydrolase
    2. NM_001310459.2NP_001297388.1  eyes absent homolog 1 isoform 3

      See identical proteins and their annotated locations for NP_001297388.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' CDS, compared to variant 4. It encodes isoform 3, which is shorter than isoform 4 by an amino acid residue.
      Source sequence(s)
      AC119875, AC156988
      Consensus CDS
      CCDS78545.1
      UniProtKB/Swiss-Prot
      G5E864, O08818, P97767
      UniProtKB/TrEMBL
      Q6PAJ8
      Related
      ENSMUSP00000027066.7, ENSMUST00000027066.13
      Conserved Domains (1) summary
      cd02601
      Location:320591
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    3. NM_001402659.1NP_001389588.1  eyes absent homolog 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC119875, AC156988
      UniProtKB/TrEMBL
      Q6PAJ8
    4. NM_001402660.1NP_001389589.1  eyes absent homolog 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC119875, AC156988
      UniProtKB/TrEMBL
      Q6PAJ8
    5. NM_001402661.1NP_001389590.1  eyes absent homolog 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC119875, AC156988
      UniProtKB/TrEMBL
      Q6PAJ8
    6. NM_001402662.1NP_001389591.1  eyes absent homolog 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC119875, AC156988
    7. NM_010164.3NP_034294.2  eyes absent homolog 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses alternate in-frame splice junctions compared to variant 4. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 4.
      Source sequence(s)
      AC119875, AC156988
      Consensus CDS
      CCDS78546.1
      UniProtKB/TrEMBL
      F6YST4, Q6PAJ8
      Related
      ENSMUSP00000126383.4, ENSMUST00000168081.9
      Conserved Domains (3) summary
      TIGR01658
      Location:316587
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:318562
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam03153
      Location:74250
      TFIIA; Transcription factor IIA, alpha/beta subunit

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      14239177..14381259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006495452.4XP_006495515.1  eyes absent homolog 1 isoform X5

      See identical proteins and their annotated locations for XP_006495515.1

      UniProtKB/TrEMBL
      Q6NXW1
      Conserved Domains (1) summary
      cd02601
      Location:288533
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    2. XM_017315414.2XP_017170903.1  eyes absent homolog 1 isoform X8

      UniProtKB/TrEMBL
      Q6PAJ8
      Conserved Domains (1) summary
      cd02601
      Location:204475
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    3. XM_011238346.3XP_011236648.1  eyes absent homolog 1 isoform X5

      See identical proteins and their annotated locations for XP_011236648.1

      UniProtKB/TrEMBL
      Q6NXW1
      Conserved Domains (1) summary
      cd02601
      Location:288533
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    4. XM_017315381.2XP_017170870.1  eyes absent homolog 1 isoform X5

      UniProtKB/TrEMBL
      Q6NXW1
      Conserved Domains (1) summary
      cd02601
      Location:288533
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    5. XM_006495446.5XP_006495509.1  eyes absent homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006495509.1

      UniProtKB/TrEMBL
      Q6PAJ8
      Conserved Domains (1) summary
      cd02601
      Location:321566
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    6. XM_030247470.2XP_030103330.1  eyes absent homolog 1 isoform X1

      UniProtKB/TrEMBL
      Q6PAJ8
      Conserved Domains (1) summary
      cd02601
      Location:321566
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    7. XM_017315348.3XP_017170837.1  eyes absent homolog 1 isoform X3

      UniProtKB/Swiss-Prot
      G5E864, O08818, P97767
      UniProtKB/TrEMBL
      Q6PAJ8
      Related
      ENSMUSP00000141112.2, ENSMUST00000190337.7
      Conserved Domains (1) summary
      cd02601
      Location:320591
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    8. XM_036159662.1XP_036015555.1  eyes absent homolog 1 isoform X7

      Conserved Domains (1) summary
      cd02601
      Location:199444
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    9. XM_036159644.1XP_036015537.1  eyes absent homolog 1 isoform X6

      UniProtKB/TrEMBL
      Q6PAJ8
      Conserved Domains (1) summary
      cl21460
      Location:321493
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    10. XM_036159675.1XP_036015568.1  eyes absent homolog 1 isoform X10

    RNA

    1. XR_001780756.2 RNA Sequence